Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA915976020

Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 663532

ClinVar RCV Id: RCV000821424 RCV002397720

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Trp3512Cys	CA1715017 NM_015120.4:c.10536G>T CA347283446 NM_015120.4:c.10536G>C